Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease BEFREE Here we report the largest series of patients with ERS in a same population, and describe, for the first time, a founder mutation for FAM20A. 30394349 2019
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 Biomarker disease BEFREE FAM20A immunohistochemistry revealed a strong reactivity at the suprabasal layers of epithelium in control gingiva but showed a significantly diminished and scattered signal in ERS tissues. 31131889 2019
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease BEFREE Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. 28298625 2017
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease UNIPROT Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta. 25827751 2015
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 Biomarker disease GENOMICS_ENGLAND Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta. 25827751 2015
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease UNIPROT Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report. 25636655 2015
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease UNIPROT A secretory kinase complex regulates extracellular protein phosphorylation. 25789606 2015
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease UNIPROT Enamel-renal-gingival syndrome and FAM20A mutations. 24259279 2014
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease BEFREE Enamel-renal-gingival syndrome and FAM20A mutations. 24259279 2014
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease UNIPROT FAM20A mutations associated with enamel renal syndrome. 24196488 2014
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease BEFREE FAM20A mutations associated with enamel renal syndrome. 24196488 2014
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease UNIPROT Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation. 24756937 2014
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease BEFREE We propose ERS to be the preferred term for all the phenotypes arising from recessive FAM20A mutations. 24927635 2014
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease UNIPROT Supported by the observation of severe ectopic calcifications in the kidneys of Fam20a null mice, we conclude that FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes, and that mutations in FAM20A cause both AIGFS and ERS. 23468644 2013
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease BEFREE Supported by the observation of severe ectopic calcifications in the kidneys of Fam20a null mice, we conclude that FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes, and that mutations in FAM20A cause both AIGFS and ERS. 23468644 2013
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease UNIPROT Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene. 23697977 2013
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 Biomarker disease GENOMICS_ENGLAND Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice. 22732358 2012
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease UNIPROT This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. 23434854 2012
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease BEFREE Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. 23434854 2012
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease UNIPROT Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. 21990045 2012
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GermlineCausalMutation disease ORPHANET This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. 23434854 2012
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease UNIPROT Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. 21549343 2011
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 CausalMutation disease CLINVAR
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 GeneticVariation disease CLINVAR